SPINK5

serine peptidase inhibitor, Kazal type 5
OMIM: 605010
PanelMode of inheritanceDetails
4 panels
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R165
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Netherton Syndrome
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Netherton syndrome 256500, Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive, Combined immunodeficiencies with associated or syndromic features